CLPB Gene Summary [Human]
This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | CLPB |
| Official Name | caseinolytic mitochondrial matrix peptidase chaperone subunit B [Source:HGNC Symbol;Acc:HGNC:30664] |
| Ensembl ID | ENSG00000162129 |
| Bio databases IDs | |
| Aliases | caseinolytic mitochondrial matrix peptidase chaperone subunit B, suppressor of potassium transport defect 3, ankyrin-repeat containing bacterial clp fusion |
| Synonyms | ANKCLB, ANKCLP, ClpB caseinolytic peptidase B, ClpB family mitochondrial disaggregase, HSP78, MEGCANN, MGCA7, MGCA7A, SCN9, SKD3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CLPB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Ankyrin repeats (many copies)
- Ankyrin repeats (3 copies)
- protein binding
- AAA domain (Cdc48 subfamily)
- ATPase
- Ankyrin repeat
- C-terminal, D2-small domain, of ClpB protein
- AAA domain
- AAA domain (dynein-related subfamily)
- ATPase family associated with various cellular activities (AAA)
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- autosomal dominant severe congenital neutropenia type 9
- severe congenital neutropenia
- 3-methylglutaconic aciduria type VIIA
- idiopathic scoliosis
- Leigh syndrome
role in cell
- apoptosis
- function
- differentiation
- response by
- function in
- synthesis in
- tubulation
- tubulation in
- fragmentation in
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- mitochondrial intermembrane space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLPB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to heat
- RIG-I signaling pathway
- granulocyte differentiation
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding